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Author

V. Peter

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2 papers indexed here

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Review Open access Sep 2026

[Stargardt disease: genetics, molecular mechanisms, potential lifestyle interventions and pharmacotherapy].

Stargardt disease (STGD1) is the most common inherited macular dystrophy. It is caused by biallelic variants in the ABCA4 gene and leads to impaired retinoid transport within photoreceptors. Disruption of retinoid clearance results in the accumulation of lipofuscin in the retinal pigment epithelium (RPE), which in turn...

T. Lipsky, Sophia Dithmar, G. Ansari et al. · 0 citations
Open access Aug 2026

Clinical and molecular features of PRCD-associated retinopathy.

PURPOSE To describe the clinical and genetic characteristics of patients with biallelic disease-causing variants in the PRCD (Progressive Rod-Cone Degeneration) gene. METHODS Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries. Clinical assessments in...

V. Kostin, Karolina Kaminska, M. Cattaneo et al. · 0 citations

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